Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC 27157-1053, USA.
Curr Hypertens Rep. 2012 Feb;14(1):21-8. doi: 10.1007/s11906-011-0237-4.
Apolipoprotein L1 (APOL1) gene association studies and results of the African American Study of Kidney Disease and Hypertension are disproving the longstanding concept that mild to moderate essential hypertension contributes substantially to end-stage renal disease susceptibility in African Americans. APOL1 coding variants underlie a spectrum of kidney diseases, including that attributed to hypertension (labeled arteriolar or hypertensive nephrosclerosis), focal segmental glomerulosclerosis, and HIV-associated nephropathy. APOL1 nephropathy risk variants persist because of protection afforded from the parasite that causes African sleeping sickness. This breakthrough will lead to novel treatments for hypertensive African Americans with low-level proteinuria, for whom effective therapies are lacking. Furthermore, APOL1 nephropathy risk variants contribute to racially variable allograft survival rates after kidney transplantation and assist in detecting nondiabetic forms of nephropathy in African Americans with diabetes. Discovery of APOL1-associated nephropathy was a major success of the genetics revolution, demonstrating that secondary hypertension is typically present in nondiabetic African Americans with nephropathy.
载脂蛋白 L1（APOL1）基因关联研究和美国非洲裔肾脏病和高血压研究的结果正在推翻长期以来的概念，即轻度至中度原发性高血压会大大增加非裔美国人患终末期肾脏疾病的易感性。APOL1 编码变异体是一系列肾脏疾病的基础，包括归因于高血压（称为小动脉或高血压性肾硬化症）、局灶节段性肾小球硬化症和 HIV 相关性肾病。APOL1 肾病风险变异体持续存在，因为它们受到导致非洲昏睡病的寄生虫的保护。这一突破将为蛋白尿水平较低的高血压非裔美国人提供新的治疗方法，因为这些人缺乏有效的治疗方法。此外，APOL1 肾病风险变异体有助于在肾移植后种族间移植物存活率的差异，并有助于检测患有糖尿病的非裔美国人中非糖尿病形式的肾病。APOL1 相关肾病的发现是遗传学革命的重大成功，表明继发性高血压通常存在于患有肾病的非裔美国人中，而这些患者没有糖尿病。
